A (132) | B (54) | C (205) | D (45) | E (30) | F (80) | G (88) | H (109) | I (76) | J (9) | K (51) | L (35) | M (124) | N (53) | O (17) | P (143) | Q (1) | R (69) | S (130) | T (112) | U (26) | V (12) | W (12) | X (7) | Y (1) | Z (25)
HGNC GENE SYMBOL HGNC gene description OMIM NO DATABASE NAME/INTERNET ADDRESS CURATORS
RAB27A RAB27A, member RAS oncogene family 603868 RAB27Abase: Mutation registry for Griscelli syndrome, type 2 (GS2) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
RAB27A RAB27A, member RAS oncogene family 603868 Mutations of the Small Nucleotide-binding Protein 27a Gene Retina International
RAB27A RAB27A, member RAS oncogene family 603868 CCHMC - Human Genetics Mutation Database Ammar Husami and Theru A. Sivakumaran
RAB33A RAB33A, member RAS oncogene family 300333 RAB33A database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RAB39B RAB39B, member RAS oncogene family 300774 RAB39B database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RAB40A RAB40A, member RAS oncogene family \N RAB40A database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RAB40AL RAB40A, member RAS oncogene family-like 300405 RAB40AL database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RAB41 RAB41, member RAS oncogene family \N RAB41 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RAB7A RAB7A, member RAS oncogene family 602298 Inherited Peripheral Neuropathies Mutation Database Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
RAB9B RAB9B, member RAS oncogene family 300285 RAB9B database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) 602049 RAC2base: Mutation registry for Neutrophil immunodeficiency syndrome Mauno Vihinen, Univ. of Tampere, Tampere, Finland
RAG1 recombination activating gene 1 179615 RAG1base: Mutation registry for autosomal recessive RAG1 deficiency Mauno Vihinen, Anna Villa, Univ. of Tampere, Tampere, Finland
RAG2 recombination activating gene 2 179616 RAG2base: Mutation registry for autosomal recessive RAG2 deficiency Mauno Vihinen, Anna Villa, Univ. of Tampere, Tampere, Finland
RAI2 retinoic acid induced 2 300217 RAI2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RASA1 RAS p21 protein activator (GTPase activating protein) 1 139150 RASA1 - Related Disorders, RASA1 Gene Database Pinar Bayrak-Toydemir, University of Utah, ARUP Laboratories
RB1 retinoblastoma 1 180200 rb1-lsdb, Universitat Duisburg-Essen Dietmar R. Lohmann and Julia Röwenstrunk, Universitat Duisburg-Essen, Germany
RBM10 RNA binding motif protein 10 300080 RBM10 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RBM41 RNA binding motif protein 41 \N RBM41 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RBMX RNA binding motif protein, X-linked 300199 RBMX database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RDH5 retinol dehydrogenase 5 (11-cis/9-cis) 601617 Mutations of the 11-cis Retinol Dehydrogenase Gene Retina International
RENBP renin binding protein 312420 RENBP database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
REPS2 RALBP1 associated Eps domain containing 2 300317 REPS2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RET ret proto-oncogene 164761 Multiple Endocrine Neoplasia type 2 (MEN2) RET database Dr. Rebecca Margraf and Dr. Rong Mao, ARUP Institute for Clinical and Experimental Pathology(r), Salt Lake, City, UT, USA
RFX5 regulatory factor X, 5 (influences HLA class II expression) 601863 RFX5base: Mutation registry for MHCII promoter X box regulatory factor 5 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
RFXANK regulatory factor X-associated ankyrin-containing protein 603200 RFXANKbase: Mutation registry for Ankyrin repeat containing regulatory factor X-associated protein deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
RFXAP regulatory factor X-associated protein 601861 RFXAPbase: Mutation registry for Regulatory factor X-associated protein deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
RGAG1 retrotransposon gag domain containing 1 \N RGAG1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RGAG4 retrotransposon gag domain containing 4 \N RGAG4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RGR retinal G protein coupled receptor 600342 Mutations of the RPE-Retinal G-Protein-Coupled Receptor Retina International
RHAG Rh-associated glycoprotein 180297 Blood Group Antigen Mutation Database Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A
RHCE Rh blood group, CcEe antigens 111700 Blood Group Antigen Mutation Database Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A
RHD Rh blood group, D antigen 111680 Blood Group Antigen Mutation Database Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A
RHO rhodopsin 180380 Mutations of the Rhodopsin Gene Retina International
RIPPLY1 ripply1 homolog (zebrafish) 300575 RIPPLY1 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RLIM ring finger protein, LIM domain interacting 300379 RLIM database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RNF113A ring finger protein 113A \N RNF113A database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RNF128 ring finger protein 128 300439 RNF128 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RNF135 ring finger protein 135 611358 RNF135 at LOVD Monique Losekoot, LUMC, Leiden, Netherlands
ROM1 retinal outer segment membrane protein 1 180721 Mutations of the Rod Outer Membrane Proteine 1 (ROM1) Gene Retina International
ROR2 receptor tyrosine kinase-like orphan receptor 2 602337 ROR2 database at LOVD Jacopo Celli, LUMC, The Netherlands
RP1 retinitis pigmentosa 1 (autosomal dominant) 603937 Mutations of the RP1 Gene Retina International
RP2 retinitis pigmentosa 2 (X-linked recessive) 300757 RP2 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RP2 retinitis pigmentosa 2 (X-linked recessive) 312600 Mutations of the RP2 Gene Retina International
RPA4 replication protein A4, 30kDa 300767 RPA4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RPE65 retinal pigment epithelium-specific protein 65kDa 180069 Mutations of the RPE65 Gene Retina International
RPGR retinitis pigmentosa GTPase regulator 312610 RPGR database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RPGR retinitis pigmentosa GTPase regulator 312610 Mutations of the Retinitis Pigmentosa GTPase Regulator (RPGR) Gene Retina International
RPGR retinitis pigmentosa GTPase regulator 312610 RPGR @ The Human Genetics Unit Edinburgh U.K. Xinhua Shu and Alan Wright
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 605446 Mutations of the Retinitis Pigmentosa GTPase Regulator Interacting Protein Gene Retina International
RPL10 ribosomal protein L10 312173 RPL10 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RPL11 ribosomal protein L11 604175 Diamond-Blackfan Anemia, ribosomal protein L11 (RPL11) Illenia Boria and Ugo Ramenghi
RPL35A ribosomal protein L35a 180468 Diamond-Blackfan Anemia, ribosomal protein L35a (RPL35A) Illenia Boria and Ugo Ramenghi
RPL36A ribosomal protein L36a \N RPL36A database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RPL39 ribosomal protein L39 601904 RPL39 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RPL5 ribosomal protein L5 603634 Diamond-Blackfan Anemia, ribosomal protein L5 (RPL5) Illenia Boria and Ugo Ramenghi
RPL9P7 ribosomal protein L9 pseudogene 7 \N RPL9P7 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RPS17 ribosomal protein S17 180472 Diamond-Blackfan Anemia ribosomal protein S17 (RPS17) Illenia Boria and Ugo Ramenghi
RPS19 ribosomal protein S19 603474 Diamond-Blackfan Anemia ribosomal protein S19 (RPS19) Illenia Boria and Ugo Ramenghi
RPS24 ribosomal protein S24 602412 Diamond-Blackfan Anemia ribosomal protein S24 (RPS24) Illenia Boria and Ugo Ramenghi
RPS26P11 ribosomal protein S26 pseudogene 11 \N RPS26P11 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RPS4X ribosomal protein S4, X-linked 312760 RPS4X database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 300075 Coffin-Lowry Syndrome University of Strasbourg, France
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 300075 RPS6KA3 database at LOVD Jacopo Celli and Johan den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RPS6KA6 ribosomal protein S6 kinase, 90kDa, polypeptide 6 300303 RPS6KA6 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RPS7 ribosomal protein S7 603658 Diamond-Blackfan Anemia ribosomal protein S7 (RPS7) Illenia Boria and Ugo Ramenghi
RS1 retinoschisin 1 312700 X-Linked Juvenile Retinoschisis Markus Preising & Johan den Dunnen, Leiden Univ. Medical Centre, Leiden, The Netherlands
RS1 retinoschisin 1 312700 Mutations of the X-linked Retinoschisis Gene Retina International
RYR1 ryanodine receptor 1 (skeletal) 180901 Leiden Muscular Dystrophy pages Johan T. den Dunnen Leiden Univ. Med Centre
RYR2 ryanodine receptor 2 (cardiac) 180902 Gene Connection for the Heart - Catecholaminergic Polymorphic Ventricular Tachycardia C. Napolitano, Luciana deGiuli and Andrea Zuanetti, Pavia, Italy

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